Clinical research in genetically determined leukoencephalopathies: a parenting stress pilot study and rare disease database development
Bibliographic record
Abstract
Leukodystrophies (LDs) and genetically determined leukoencephalopathies (gLEs) are a heterogeneous group of rare genetic disorders of the cerebral white matter.LDs are primary disorders of the cerebral white matter (i.e.glial cells, myelin sheath), while gLEs include all leukodystrophies and disorders affecting the white matter secondarily to other processes (e.g.vascular, metabolic, etc.).Their incidence is estimated to be around 1:7663 live births.They are primarily affecting the pediatric population.The diagnosis is typically determined by magnetic resonance imaging (MRI) pattern recognition, detailed clinical phenotyping, and genetic testing.Unfortunately, there are currently no known cures for most LDs and gLEs.Considering that LDs and
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.002 | 0.002 |
| Meta-epidemiology (narrow) | 0.001 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.000 | 0.001 |
| Insufficient payload (model declined to judge) | 0.000 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one teacher head, not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".